Variant report

Variant	rs12310047
Chromosome Location	chr12:105469365-105469366
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105462061..105464971-chr12:105467653..105470176,2	K562	blood:
2	chr12:105468550..105470526-chr12:105471478..105473795,2	K562	blood:
3	chr12:105461590..105464324-chr12:105467653..105469817,3	K562	blood:
4	chr12:105464694..105466929-chr12:105467498..105470680,3	K562	blood:
5	chr12:105467422..105469473-chr12:105483302..105486142,2	K562	blood:

Variant related genes	Relation type
ENSG00000257886	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10861343	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112358	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11112361	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11614837	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1345094	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2374450	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539185	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6539191	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7298218	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7954946	0.95[ASN][1000 genomes]
rs7962796	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs935247	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:105441200-105477000	Weak transcription	Gastric	stomach
4	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
5	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:105447200-105477200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:105449400-105476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:105453400-105476800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:105454200-105476600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:105455600-105476400	Weak transcription	Fetal Brain Male	brain
11	chr12:105456000-105477000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:105456400-105475000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:105456600-105475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:105456800-105471200	Weak transcription	Pancreas	Pancrea
15	chr12:105456800-105476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105460400-105476600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:105460400-105476600	Weak transcription	Fetal Brain Female	brain
18	chr12:105460600-105476600	Weak transcription	Brain Germinal Matrix	brain
19	chr12:105464400-105476600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:105464600-105475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:105464600-105476200	Weak transcription	NHLF	lung
22	chr12:105464600-105477000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:105464600-105477000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:105465200-105470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:105465200-105476400	Weak transcription	NHDF-Ad	bronchial
26	chr12:105465400-105476800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:105467000-105470000	Weak transcription	NHEK	skin
28	chr12:105467400-105469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:105467400-105476800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:105467600-105469600	Weak transcription	HMEC	breast
31	chr12:105467800-105469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:105467800-105469400	Weak transcription	Osteobl	bone
33	chr12:105467800-105469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:105467800-105469600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:105467800-105469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:105467800-105470000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:105467800-105470000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:105467800-105470200	Weak transcription	HSMMtube	muscle
39	chr12:105467800-105475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:105467800-105476600	Weak transcription	NH-A	brain
41	chr12:105467800-105476800	Weak transcription	Fetal Stomach	stomach
42	chr12:105467800-105477000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:105467800-105477000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:105468000-105469600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:105468000-105469800	Weak transcription	HSMM	muscle
46	chr12:105468000-105470800	Weak transcription	Aorta	Aorta
47	chr12:105468000-105476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:105468400-105469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:105468600-105470000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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